Results 71 to 80 of about 410 (154)
Acta Ophthalmologica, EarlyView.Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic +10 more
wiley +1 more source
National policy of the finnish government on the occupied territory of Karelia in 1941-1944
RUDN Journal of Russian History, 2009 The paper outlines that the occupation policy of the Finnish military administration on the territory of the Soviet Karelia in 1941-1944 was based on the idea of dividing the residents on the Finno-Ugric population (indigenous) with the number of ...
S G Verigin
doaj
Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy
Clinical Genetics, EarlyView.Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Population diversification in demographics, health, and living environments: the Barents Region in review [PDF]
, 2016 : This paper provides updates on the geographical patterns in well-being of the population of the Barents region by applying indicators used in demography, public health, and environmental studies. In particular, we analyze recent demographic trends with
Emelyanova, A., Rautio, A.
core
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
Clinical Genetics, EarlyView.A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk +13 more
wiley +1 more source
Известия Уральского федерального университета. Серия 2: Гуманитарные наукиThis article examines the level of content of dialect nominations of the process of speaking with a Finnic basis. The Russian dialects of Karelia and neighbouring regions testify to the long process of mutual relations between Russians and Vepsians and ...
Irina Alekseevna Kyurshunova
doaj +1 more source
Shocks and Vulnerability in Rural Tanzania
Review of Development Economics, EarlyView.ABSTRACT This paper examines the relative importance of idiosyncratic and covariate shocks in shaping household vulnerability to poverty in rural Tanzania. Using five rounds of the Tanzanian National Panel Survey and a three‐level multilevel modeling framework, we account for the hierarchical structure of the data and decompose consumption variance ...
Tseday J. Mekasha +2 more
wiley +1 more source
Eager, pragmatic or reluctant: Can common Finno-Ugric ethnic and linguistic links substantiate intra-EU CFSP co-operation? [PDF]
, 2008 The paper discusses the salience of the Finno-Ugric links in substantiating intra-EU cooperation among Finland, Estonia and Hungary. The focus is on investigating evidence of such cooperation in the EU's human rights and minority rights related policies ...
Korkut, Umut
core
Ethnic Structure of St Petersburg – Petrograd – Leningrad in the Period of 1703-1991 [PDF]
, 2013 This article presents a multinational and multireligious character of St. Petersburg since the founding of the city to the collapse of the Soviet Union.
Bartłomiej Garczyk
core +2 more sources